Variant report

Variant	nsv1056282
Chromosome Location	chr18:44351115-44388233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr18:44367638-44367984	GM12878	blood:	n/a	n/a
2	CEBPB	chr18:44376072-44376263	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr18:44369682-44369880	HepG2	liver:	n/a	chr18:44369709-44369720
4	CEBPB	chr18:44380339-44380513	HepG2	liver:	n/a	chr18:44380462-44380473
5	CEBPB	chr18:44376035-44376269	IMR90	lung:	n/a	n/a
6	CEBPB	chr18:44376072-44376254	A549	lung:	n/a	n/a
7	CTCF	chr18:44352561-44352564	GM12878	blood:	n/a	n/a
8	CTCF	chr18:44373684-44373811	Medullo	brain:	n/a	chr18:44373713-44373720
9	CTCF	chr18:44373702-44373838	A549	lung:	n/a	chr18:44373713-44373720
10	CTCF	chr18:44373720-44373870	HFF	foreskin:	n/a	n/a
11	CTCF	chr18:44352446-44352526	MCF-7	breast:	n/a	chr18:44352478-44352499
12	CTCF	chr18:44352468-44352562	MCF-7	breast:	n/a	chr18:44352478-44352499
13	CTCF	chr18:44373500-44373650	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr18:44373620-44373770	NHDF-neo	bronchial:	n/a	chr18:44373713-44373720
15	CTCF	chr18:44373730-44373824	MCF-7	breast:	n/a	n/a
16	CTCF	chr18:44373700-44373850	SAEC	small airway:	n/a	chr18:44373713-44373720
17	CTCF	chr18:44373640-44373790	BE2_C	brain:	n/a	chr18:44373713-44373720
18	CTCF	chr18:44373723-44373784	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr18:44373700-44373850	NB4	blood:	n/a	chr18:44373713-44373720
20	CTCF	chr18:44373720-44373870	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr18:44352584-44352652	GM12878	blood:	n/a	n/a
22	CTCF	chr18:44373655-44373824	LNCaP	prostate:	n/a	chr18:44373713-44373720
23	CTCF	chr18:44373710-44373852	H1-hESC	embryonic stem cell:	n/a	chr18:44373713-44373720
24	CTCF	chr18:44373640-44373790	HepG2	liver:	n/a	chr18:44373713-44373720
25	CTCF	chr18:44373660-44373810	AG10803	skin:	n/a	chr18:44373713-44373720
26	CTCF	chr18:44352438-44352604	GM19238	blood:	n/a	chr18:44352478-44352499
27	CTCF	chr18:44373600-44373750	GM12873	blood:	n/a	chr18:44373713-44373720
28	CTCF	chr18:44373660-44373810	NHEK	skin:	n/a	chr18:44373713-44373720
29	CTCF	chr18:44373660-44373810	GM12873	blood:	n/a	chr18:44373713-44373720
30	CTCF	chr18:44373698-44373815	Hela-S3	cervix:	n/a	chr18:44373713-44373720
31	CTCF	chr18:44352433-44352545	GM19239	blood:	n/a	chr18:44352478-44352499
32	CTCF	chr18:44373743-44373786	ProgFib	skin:	n/a	n/a
33	CTCF	chr18:44373692-44373825	K562	blood:	n/a	chr18:44373713-44373720
34	CTCF	chr18:44373724-44373835	MCF-7	breast:	n/a	n/a
35	CTCF	chr18:44352460-44352610	K562	blood:	n/a	chr18:44352478-44352499
36	CTCF	chr18:44380860-44381010	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr18:44352480-44352564	MCF-7	breast:	n/a	n/a
38	CTCF	chr18:44352365-44352710	H1-hESC	embryonic stem cell:	n/a	chr18:44352478-44352499
39	CTCF	chr18:44373680-44373830	GM12865	blood:	n/a	chr18:44373713-44373720
40	CTCF	chr18:44373676-44373823	Fibrobl	skin:	n/a	chr18:44373713-44373720
41	CTCF	chr18:44373660-44373810	GM06990	blood:	n/a	chr18:44373713-44373720
42	CTCF	chr18:44373620-44373770	MCF-7	breast:	n/a	chr18:44373713-44373720
43	CTCF	chr18:44365042-44365077	GM10248	blood:	n/a	n/a
44	CTCF	chr18:44373720-44373870	HCT-116	colon:	n/a	n/a
45	CTCF	chr18:44373674-44373834	Gliobla	brain:	n/a	chr18:44373713-44373720
46	CTCF	chr18:44373740-44373890	GM12872	blood:	n/a	n/a
47	CTCF	chr18:44373726-44373787	GM19239	blood:	n/a	n/a
48	CTCF	chr18:44373700-44373850	HUVEC	blood vessel:	n/a	chr18:44373713-44373720
49	CTCF	chr18:44385400-44385550	GM12869	blood:	n/a	n/a
50	CTCF	chr18:44373713-44373799	GM12878	blood:	n/a	chr18:44373713-44373720

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44385414..44388216-chr18:44388494..44390320,2	MCF-7	breast:
2	chr18:44384558..44388431-chr18:44394161..44395866,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KATNAL2-7	chr18:44383140-44387340	NONHSAT059143
2	lnc-PIAS2-1	chr18:44383187-44383857	ENSG00000267167.1

Variant related genes	Relation type
ENSG00000267167	TF binding region

Extended variants
information (count: 1315 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1315 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144659781	chr18:44351145-44351146	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16940061	chr18:44351173-44351174	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs564680070	chr18:44351179-44351180	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375660305	chr18:44351190-44351191	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74372688	chr18:44351253-44351254	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77033771	chr18:44351255-44351256	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185962989	chr18:44351260-44351261	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35865348	chr18:44351303-44351304	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190430194	chr18:44351387-44351388	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567007979	chr18:44351417-44351418	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535972849	chr18:44351442-44351443	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549563322	chr18:44351444-44351445	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569557718	chr18:44351580-44351581	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs499665	chr18:44351602-44351603	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370253722	chr18:44351618-44351619	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181514566	chr18:44351620-44351621	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115079344	chr18:44351626-44351627	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146217510	chr18:44351645-44351646	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61414809	chr18:44351646-44351647	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67251470	chr18:44351647-44351648	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186649440	chr18:44351693-44351694	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34658416	chr18:44351725-44351726	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367898150	chr18:44351844-44351845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16940062	chr18:44351851-44351852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574963482	chr18:44351917-44351918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543979483	chr18:44351920-44351921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190983524	chr18:44351924-44351925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs514371	chr18:44351943-44351944	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs182887845	chr18:44352009-44352010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112664863	chr18:44352034-44352035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528818861	chr18:44352043-44352044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554936028	chr18:44352046-44352047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560597733	chr18:44352047-44352048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536554739	chr18:44352048-44352049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529733518	chr18:44352055-44352056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368361880	chr18:44352102-44352103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547221404	chr18:44352117-44352118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375190432	chr18:44352121-44352122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72903391	chr18:44352127-44352128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569707320	chr18:44352169-44352170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111493558	chr18:44352190-44352191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114042082	chr18:44352197-44352198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534944157	chr18:44352208-44352209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73434986	chr18:44352243-44352244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12455224	chr18:44352258-44352259	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs191147565	chr18:44352267-44352268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528532902	chr18:44352325-44352326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183321394	chr18:44352412-44352413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140220114	chr18:44352511-44352512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12455331	chr18:44352539-44352540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44347800-44353600	Enhancers	Brain Germinal Matrix	brain
2	chr18:44348200-44352200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr18:44348600-44351200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:44349000-44351400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr18:44349400-44353200	Weak transcription	HSMMtube	muscle
6	chr18:44349600-44353000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr18:44349600-44381600	Weak transcription	Psoas Muscle	Psoas
8	chr18:44349800-44351200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:44349800-44351600	Weak transcription	Right Atrium	heart
10	chr18:44349800-44352800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:44349800-44353000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr18:44349800-44353200	Weak transcription	Right Ventricle	heart
13	chr18:44350000-44357600	Weak transcription	Left Ventricle	heart
14	chr18:44350200-44351800	Weak transcription	GM12878-XiMat	blood
15	chr18:44350200-44352400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr18:44350600-44352400	Enhancers	Primary hematopoietic stem cells	blood
17	chr18:44350600-44352400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr18:44350600-44352600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr18:44350600-44352800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr18:44350800-44351200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr18:44350800-44351200	Enhancers	Fetal Stomach	stomach
22	chr18:44350800-44351400	Enhancers	Fetal Lung	lung
23	chr18:44350800-44351400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr18:44350800-44352200	Enhancers	Fetal Brain Male	brain
25	chr18:44350800-44352800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr18:44350800-44352800	Enhancers	Fetal Heart	heart
27	chr18:44350800-44353000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr18:44351000-44351200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr18:44351000-44351400	Enhancers	Brain Angular Gyrus	brain
30	chr18:44351000-44351400	Weak transcription	Fetal Muscle Leg	muscle
31	chr18:44351000-44351600	Enhancers	Brain Anterior Caudate	brain
32	chr18:44351000-44351800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr18:44351000-44351800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:44351000-44352000	Enhancers	Fetal Brain Female	brain
35	chr18:44351000-44353200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr18:44351200-44351400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr18:44351200-44351400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr18:44351200-44352000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr18:44351200-44352400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr18:44351200-44352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr18:44351200-44352800	Enhancers	Brain Cingulate Gyrus	brain
42	chr18:44351400-44351800	Enhancers	Fetal Muscle Trunk	muscle
43	chr18:44351400-44352400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr18:44351400-44352600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr18:44351400-44353200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr18:44351400-44353800	Enhancers	Fetal Muscle Leg	muscle
47	chr18:44351400-44354000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr18:44351400-44354400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr18:44351600-44351800	Enhancers	Right Atrium	heart
50	chr18:44351800-44352000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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